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GeneBe API Showcase
This page demonstrates how to use the GeneBe API to query variant information. The API provides programmatic access to genomic annotations and variant data.
API presented here should be used for checking single variants. If you want to check many variants at once, please use other API endpoints that you will find in the documentation.
Documentation & Advanced Usage
• Complete API documentation:docs.genebe.net/docs/api/overview/
• Interactive endpoint tester:api.genebe.net/cloud/gb-api-doc/swagger-ui/
• Python client for pandas:pypi.org/project/genebe/
• Java CLI for VCF files:github.com/pstawinski/genebe-cli
• All tools documented at:docs.genebe.net
API Request Examples for Variant: 6-166412777-C-T (hg38)
Bash / cURL Example
bash
curl "https://api.genebe.net/cloud/api-public/v1/variant?chr=6&pos=166412777&ref=C&alt=T&genome=hg38&allGenes=true"API Response
json
{
"variants": [
{
"chr": "6",
"pos": 166412777,
"ref": "C",
"alt": "T",
"effect": "synonymous_variant",
"transcript": "NM_001318936.2",
"consequences": [
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2187G>A",
"hgvs_p": "p.Thr729Thr",
"transcript": "NM_021135.6",
"protein_id": "NP_066958.2",
"transcript_support_level": null,
"aa_start": 729,
"aa_end": null,
"aa_length": 733,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "ENST00000265678.9",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_021135.6"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": true,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2187G>A",
"hgvs_p": "p.Thr729Thr",
"transcript": "ENST00000265678.9",
"protein_id": "ENSP00000265678.4",
"transcript_support_level": 1,
"aa_start": 729,
"aa_end": null,
"aa_length": 733,
"cds_start": 2187,
"cds_end": null,
"cds_length": 2202,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": "NM_021135.6",
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000265678.9"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1920G>A",
"hgvs_p": "p.Thr640Thr",
"transcript": "ENST00000481261.6",
"protein_id": "ENSP00000422484.1",
"transcript_support_level": 1,
"aa_start": 640,
"aa_end": null,
"aa_length": 644,
"cds_start": 1920,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000481261.6"
},
{
"aa_ref": null,
"aa_alt": null,
"canonical": false,
"protein_coding": false,
"strand": false,
"consequences": [
"non_coding_transcript_exon_variant"
],
"exon_rank": 6,
"exon_rank_end": null,
"exon_count": 6,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "n.723G>A",
"hgvs_p": null,
"transcript": "ENST00000509742.1",
"protein_id": null,
"transcript_support_level": 1,
"aa_start": null,
"aa_end": null,
"aa_length": null,
"cds_start": null,
"cds_end": null,
"cds_length": null,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "pseudogene",
"feature": "ENST00000509742.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2262G>A",
"hgvs_p": "p.Thr754Thr",
"transcript": "NM_001318936.2",
"protein_id": "NP_001305865.2",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 758,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318936.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 23,
"exon_rank_end": null,
"exon_count": 23,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2262G>A",
"hgvs_p": "p.Thr754Thr",
"transcript": "ENST00000510118.5",
"protein_id": "ENSP00000422435.1",
"transcript_support_level": 2,
"aa_start": 754,
"aa_end": null,
"aa_length": 758,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000510118.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2262G>A",
"hgvs_p": "p.Thr754Thr",
"transcript": "ENST00000967274.1",
"protein_id": "ENSP00000637333.1",
"transcript_support_level": null,
"aa_start": 754,
"aa_end": null,
"aa_length": 758,
"cds_start": 2262,
"cds_end": null,
"cds_length": 2277,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000967274.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2211G>A",
"hgvs_p": "p.Thr737Thr",
"transcript": "NM_001006932.3",
"protein_id": "NP_001006933.3",
"transcript_support_level": null,
"aa_start": 737,
"aa_end": null,
"aa_length": 741,
"cds_start": 2211,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001006932.3"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2211G>A",
"hgvs_p": "p.Thr737Thr",
"transcript": "ENST00000503859.5",
"protein_id": "ENSP00000427015.1",
"transcript_support_level": 2,
"aa_start": 737,
"aa_end": null,
"aa_length": 741,
"cds_start": 2211,
"cds_end": null,
"cds_length": 2226,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000503859.5"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2154G>A",
"hgvs_p": "p.Thr718Thr",
"transcript": "ENST00000907318.1",
"protein_id": "ENSP00000577377.1",
"transcript_support_level": null,
"aa_start": 718,
"aa_end": null,
"aa_length": 722,
"cds_start": 2154,
"cds_end": null,
"cds_length": 2169,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907318.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2139G>A",
"hgvs_p": "p.Thr713Thr",
"transcript": "ENST00000714395.1",
"protein_id": "ENSP00000519662.1",
"transcript_support_level": null,
"aa_start": 713,
"aa_end": null,
"aa_length": 717,
"cds_start": 2139,
"cds_end": null,
"cds_length": 2154,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000714395.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2097G>A",
"hgvs_p": "p.Thr699Thr",
"transcript": "ENST00000907315.1",
"protein_id": "ENSP00000577374.1",
"transcript_support_level": null,
"aa_start": 699,
"aa_end": null,
"aa_length": 703,
"cds_start": 2097,
"cds_end": null,
"cds_length": 2112,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907315.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2067G>A",
"hgvs_p": "p.Thr689Thr",
"transcript": "ENST00000907314.1",
"protein_id": "ENSP00000577373.1",
"transcript_support_level": null,
"aa_start": 689,
"aa_end": null,
"aa_length": 693,
"cds_start": 2067,
"cds_end": null,
"cds_length": 2082,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907314.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 20,
"exon_rank_end": null,
"exon_count": 20,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2025G>A",
"hgvs_p": "p.Thr675Thr",
"transcript": "ENST00000935351.1",
"protein_id": "ENSP00000605410.1",
"transcript_support_level": null,
"aa_start": 675,
"aa_end": null,
"aa_length": 679,
"cds_start": 2025,
"cds_end": null,
"cds_length": 2040,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000935351.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1992G>A",
"hgvs_p": "p.Thr664Thr",
"transcript": "ENST00000907313.1",
"protein_id": "ENSP00000577372.1",
"transcript_support_level": null,
"aa_start": 664,
"aa_end": null,
"aa_length": 668,
"cds_start": 1992,
"cds_end": null,
"cds_length": 2007,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907313.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1980G>A",
"hgvs_p": "p.Thr660Thr",
"transcript": "ENST00000907317.1",
"protein_id": "ENSP00000577376.1",
"transcript_support_level": null,
"aa_start": 660,
"aa_end": null,
"aa_length": 664,
"cds_start": 1980,
"cds_end": null,
"cds_length": 1995,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907317.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1938G>A",
"hgvs_p": "p.Thr646Thr",
"transcript": "ENST00000907316.1",
"protein_id": "ENSP00000577375.1",
"transcript_support_level": null,
"aa_start": 646,
"aa_end": null,
"aa_length": 650,
"cds_start": 1938,
"cds_end": null,
"cds_length": 1953,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000907316.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1920G>A",
"hgvs_p": "p.Thr640Thr",
"transcript": "NM_001318938.1",
"protein_id": "NP_001305867.1",
"transcript_support_level": null,
"aa_start": 640,
"aa_end": null,
"aa_length": 644,
"cds_start": 1920,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318938.1"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 21,
"exon_rank_end": null,
"exon_count": 21,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1920G>A",
"hgvs_p": "p.Thr640Thr",
"transcript": "ENST00000405189.7",
"protein_id": "ENSP00000386050.3",
"transcript_support_level": 2,
"aa_start": 640,
"aa_end": null,
"aa_length": 644,
"cds_start": 1920,
"cds_end": null,
"cds_length": 1935,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "ENST00000405189.7"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 19,
"exon_rank_end": null,
"exon_count": 19,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.1893G>A",
"hgvs_p": "p.Thr631Thr",
"transcript": "NM_001318937.2",
"protein_id": "NP_001305866.1",
"transcript_support_level": null,
"aa_start": 631,
"aa_end": null,
"aa_length": 635,
"cds_start": 1893,
"cds_end": null,
"cds_length": 1908,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "NM_001318937.2"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2271G>A",
"hgvs_p": "p.Thr757Thr",
"transcript": "XM_006715549.4",
"protein_id": "XP_006715612.1",
"transcript_support_level": null,
"aa_start": 757,
"aa_end": null,
"aa_length": 761,
"cds_start": 2271,
"cds_end": null,
"cds_length": 2286,
"cdna_start": null,
"cdna_end": null,
"cdna_length": null,
"mane_select": null,
"mane_plus": null,
"biotype": "protein_coding",
"feature": "XM_006715549.4"
},
{
"aa_ref": "T",
"aa_alt": "T",
"canonical": false,
"protein_coding": true,
"strand": false,
"consequences": [
"synonymous_variant"
],
"exon_rank": 22,
"exon_rank_end": null,
"exon_count": 22,
"intron_rank": null,
"intron_rank_end": null,
"gene_symbol": "RPS6KA2",
"gene_hgnc_id": 10431,
"hgvs_c": "c.2181G>A",
"hgvs_p": "p.Thr727Thr",
"transcript": "XM_047419233.1",
"protein_id": "XP_047275189.1",
"transcript_support_level": null,
"aa_start": 727,
"aa_end": null,
"aa_length": 731,
"cds_start": 2181,
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{
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{
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{
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"biotype": "pseudogene",
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],
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"computational_prediction_selected": "Benign",
"computational_source_selected": "BayesDel_noAF",
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"splice_prediction_selected": "Benign",
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"bayesdelnoaf_score": -0.41,
"bayesdelnoaf_prediction": "Benign",
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"phylop100way_prediction": "Benign",
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"spliceai_max_prediction": "Benign",
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"acmg_score": -1,
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"acmg_by_gene": [
{
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"pathogenic_score": 2,
"criteria": [
"PM2",
"BP4_Moderate",
"BP7"
],
"verdict": "Likely_benign",
"transcript": "NM_001318936.2",
"gene_symbol": "RPS6KA2",
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"inheritance_mode": "AD",
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{
"score": 0,
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"criteria": [
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"BP4_Moderate"
],
"verdict": "Uncertain_significance",
"transcript": "XR_007059866.1",
"gene_symbol": "LOC124901460",
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"effects": [
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],
"inheritance_mode": "",
"hgvs_c": "n.-109C>T",
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}
],
"clinvar_disease": "",
"clinvar_classification": "",
"clinvar_review_status": "",
"clinvar_submissions_summary": "",
"phenotype_combined": null,
"pathogenicity_classification_combined": null,
"custom_annotations": null
}
],
"message": null
}